medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-323Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHАнализ причин отказов беременных с высоким риском хромосомной патологии у плода от инвазивной пренатальной диагностикиAnalysis of the causes of rejection of pregnant women at risk of chromosomal abnormalities in the fetus from invasive prenatal diagnosisЖученкоЛ. А.ZhuchenkoL. A.noemail@neicon.ruГолошубовП. А.GoloshubovP. A.noemail@neicon.ruИжевскаяВ. Л.IzhevskayaV. L.izhevskaya@med-gen.ruРоссийская медицинская академия непрерывного профессионального образованияРоссияRussian Medical Academy of Continuous Professional EducationRussian FederationФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian Federation2017200220181691015Copyright © Жученко Л.А., Голошубов П.А., Ижевская В.Л., 20182018Жученко Л.А., Голошубов П.А., Ижевская В.Л.Zhuchenko L.A., Goloshubov P.A., Izhevskaya V.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/323

Проведен анализ влияния демографических и социальных факторов на причины отказа от инвазивной пренатальной диагностики (ИПД) беременных женщин с высоким риском хромосомной патологии плода по данным раннего пренатального скрининга (РПС). Методом анкетирования обследована выборка пациенток из Московской области, прошедших РПС с 12.12.2012 г. по 30.10.2014 г. В группу риска по хромосомной патологии (риск 1:100 и выше) вошли 1580 женщин, 1164 из них (73,7%) прошли инвазивную диагностику, 416 (26,3%) отказались от нее. Получены данные о распределении женщин обеих групп по возрасту, месту жительства, социальному статусу, наличию/отсутствию детей, наличию/отсутствию больных детей, наличию/отсутствию спонтанных прерываний беременности в анамнезе, наличию/отсутствию медицинских абортов, а также о том, кто из врачей-генетиков проводил медико-генетическое консультирование. Доля женщин, отказавшихся от ИПД, достоверно различалась у разных врачей-генетиков, осуществлявших медико-генетическое консультирование (c2 = 7,8; р = 0,0055), причем мотивы отказа также различались. Так, пациентки первого врача достоверно чаще указывали, что боятся осложнений инвазивной процедуры (63,8% vs 31%), либо не могли четко сформулировать мотивы отказа (83,3% vs 16,7%). Пациентки второго врача достоверно чаще принимали решение родить ребенка независимо от диагноза (70% vs 30%). Результаты демонстрируют необходимость национального руководства, регламентирующего пренатальное медико-генетическое консультирование, и дополнительного обучения врачей-генетиков, работающих в программе РПС.

The effect of different demographic and social factors on the consent of pregnant women for invasive prenatal diagnosis or rejection of it was analyzed. Pregnant women from the Moscow region were examined in the period from 12.12.2012 till 30.10.2014. 1580 pregnant women were at the risk of chromosomal abnormalities in the fetus of 1: 100 and above. All of them have received genetic counseling. Invasive procedure was carried out in 1164 (73.7%) of them, 416 (26.3%) rejected it. Data on age, place of residence, social status, presence or absence of children, children’s health, the presence or absence of spontaneous abortions have been received. The proportion of women who refused invasive procedure, significantly differed from two genetic counselors c2 = 7.8; p = 0.0055). First counselor’s patients significantly more frequently indicated that they feared complications of invasive procedures (63.8% vs 31%), or they could not formulate reasons for the refusal of it (83.3% vs 16.7%). Second counselor’s patients significantly more frequently pointed to the decision to have a child, regardless of his health (70% vs 30%). The results demonstrate the need for national guidelines on prenatal genetic counseling and additional training of geneticists involved in the program of early prenatal screening.

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The authors declare that there are no conflicts of interest present.